Susan Iannaccone, M.D. Titles and Appointments Professor Endowed Title Warren A. Weinberg, M.D., Chair in Pediatric Neurology and Learning Schools Medical School Departments Pediatrics | Neurology Biography Since completing her residency training under the mentorship of Drs. Robert Joynt and Berch Griggs, she has focused her career on the neuromuscular disorders of childhood. For the past two decades, Dr. Susan Iannaccone has worked on management protocols and outcome measures for the most common disorders: spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). She was the PI and leader for an NIH sponsored clinical trials group, AmSMART from 2000 through 2008. With NIH funding, the group established for the first time reliability and validity for outcome measures in the young spinal muscular atrophy (SMA) population. Current trials in pediatric SMA use many of the principles they established in AmSMART. She was a member of the Outcomes Committee for the International Coordinating Committee for SMA that completed Rasch analysis for motor function outcomes in SMA. This international project made great progress toward validating a single tool to be used as motor function outcome in this population. Currently, she is site-PI for more than half a dozen clinical trials in SMA and DMD. Dr. Iannaccone is Co-Investigator for the UT Southwestern NeuroNEXT grant from NINDS, and Associate Director for the UT Southwestern Wellstone Muscular Dystrophy Center, NIH funded. She is site PI for the MDA sponsored DMD Research Network. Dallas is one of 5 sites funded for 5 years to perform clinical trials in young boys with DMD. She was Co-chair of the panel to develop Common Data Elements for Pediatric Neuromuscular disease, a project of the NINDS. She was a member of the panels that developed CDEs for congenital muscular dystrophy and for SMA. She was also an invited member of a Steering Committee to govern the project for conducting IND enabling toxicology studies for scAAV9-SMN gene therapy developed at Nationwide Children’s hospital in Columbus, Ohio. The IP is now in clinical trials sponsored by AveXis, and she is site PI for UTSW. She has worked closely over many years with several patient advocacy/volunteer groups including the Muscular Dystrophy Association, and Cure SMA, including but not limited to, the International Standard of Care Committee for Congenital Muscular Dystrophies and the DMD Study Group. She has served on research grant review committees, as well as several planning committees and panels, for them and the NIH. She was Director of Pediatric Neurology from 2004 to 2016, including duties for training residents and mentoring faculty. Dr. Iannaccone has trained/mentored more than 20 pediatric neuromuscular fellows and medical students, many of whom are currently in academic pediatric neurology positions. She holds 4 pediatric neuromuscular clinics per week, all of which are official MDA sponsored clinics. Nearly 100% of all children diagnosed with DMD/SMA in north Texas are referred to her team either by their primary care provider, another child neurologist, or by parents who read about their program on the internet. Most of the time, they request information about clinical trials at the first visit and invariably indicate that they are anxious to participate. Education Medical School State University of New York - Upstate (1969) Internship State University of New York Upstate Medical University (1970), Pediatrics Residency State University of New York Upstate Medical University (1971), Pediatrics Residency Washington University/St. Louis Childrens Hospital (1972), Pediatrics Fellowship Strong Mem Hosp Univ of Rochester (1975), Neurology Research Interest Duchenne Muscular Dystrophy Neuromuscular diseases Spinal Muscular Atrophy Publications Totally Implantable Venous Access Devices and Duchenne Muscular Dystrophy: A Single Center Experience Batley KY, Gonzalez Castillo Z, Riddle K, Iannaccone ST Pediatric Neurology 2026 Jun 179 109-113 First-in-human high dose AAV9 intrathecal gene therapy for paediatric CLN7 disease: a phase 1, open-label, single ascending dose, non-randomised clinical trial Greenberg BM, Minassian B, Messahel S, Edgar VB, Lowden A, Dahshi H, Nettesheim ER, Nguyen HH, Hughes S, Muthukumar AR, Srinivasan K, Iannaccone S, Varadarajan G, Gray SJ, Kayani SN EBioMedicine 2026 Jan 123 Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1 Kumari P, Sullivan LM, Li Z, Parker Conquest E, Cornforth E, Jayakumar R, Hu N, Alexander Sizemore J, McKee BB, Kitchen RR, González-Pérez P, Linville C, Castro K, Gutierrez H, Samaan S, Townsend EL, Darras BT, Rutkove SB, Iannaccone ST, Clemens PR, Puwanant A, Das S, Wheeler TM Nature communications 2025 Dec 16 Immunologic investigations into transgene directed immune-mediated myositis following delandistrogene moxeparvovec gene therapy Potter RA, Moeller IH, Khan S, Haegel H, Hollenstein A, Steiner G, Wandel C, Murphy AP, Asher DR, Palatinsky E, Griffin DA, Mason S, Iannaccone ST, Zaidman CM, Rodino-Klapac LR Scientific reports 2025 Dec 15 Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions Sagath L, Kiiski K, Naidu K, Patel K, Jonson PH, Laarne M, Djordjevic D, Yoon G, LaGroon A, Rogers C, Galindo MK, Scherer K, Kunstmann E, Koparir E, Ho D, Davis M, Joshi P, Zygmunt A, Orbach R, Donkervoort S, Bönnemann CG, Savarese M, Echaniz-Laguna A, Biancalana V, Genetti CA, Iannaccone ST, Beggs AH, Wallgren-Pettersson C, Henning F, Pelin K, Lehtokari VL European Journal of Human Genetics 2025 Sep 33 1153-1162 Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients with Nemaline Myopathy Hildebrandt C, Genetti CA, Logvinenko T, Win W, Barraza-Flores P, Hayes LH, Rockowitz S, Lehtokari VL, Iannaccone ST, Darras BT, Topaloglu H, Wallgren-Pettersson C, Beggs AH Neurology: Genetics 2025 Aug 11 Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic TTN-related myopathy Hayes LH, Neuhaus SB, Donkervoort S, Mohassel P, Foley AR, Dastgir J, Bharucha-Goebel D, Leach ME, Vuillerot C, Iannaccone ST, Grosmann CM, Beggs AH, Bönnemann CG Journal of Neuromuscular Diseases 2024 Nov 11 1211-1220 Immune-mediated myositis following gene therapy for Duchenne muscular dystrophy: a case report Iannaccone ST, Cai C, Rhem B, Batley K, Rajaram V, Greenberg BM, Dharia S, Zaidman CM Journal of neurology 2024 Aug 271 5659-5664 Juvenile Myasthenia Gravis in North Texas: Clinical Features, Treatment Response, and Outcomes Lu M, Reisch J, Iannaccone S, Batley K Pediatric Neurology 2024 Jul 156 10-14 “You Take This Day by Day, Come What May”: A Qualitative Study of the Psychosocial Impacts of Living with Duchenne Muscular Dystrophy Bever A, Audhya I, Szabo SM, Mickle A, Feeny D, Malone D, Neumann P, Iannaccone S, Gooch K Advances in Therapy 2024 Jun 41 2460-2476 Results 1-10 of 216 1 2 3 4 5 Next Last Books Featured Books Anterior Horn Cell and Cranial Motor Neuron Disease. In Swaiman KF, Ashwal S, Ferriero DM, eds. Pediatric Neurology: Principles and Practice. Vol. 2. 4th ed. Connolly AM, Iannaccone ST. (2006). Philadelphia: Mosby Company; 1859-1885. Genetic Neurological Disease. In Rosenberg RN, Pleasure DE, eds. Comprehensive Neurology. 2nd ed. Rosenberg RN, Iannaccone ST. (1998). New York: John Wiley & Sons, Inc. Intensive Care Management, Including Cardiorespiratory Care. In Jones HR, DeVivo DC, Darras BT, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach. 1st ed. Scott WA, Iannaccone ST. (2003). New York: Butterworth Heinemann, Elsevier; 1237-1250. Treatment and Management of Spinal Muscular Atrophy and Congenital Myopathies. In Bertorini TE, ed. Neuromuscular Disorders: Treatment and Management. 1st ed. Ionita C, Iannaccone ST. (2010). Philadelphia: Saunders Elsevier; 179-190. Childhood Spinal Muscular Atrophy. In Younger DS, ed. Motor Disorders. 2nd ed. Iannaccone ST, Khatri I. (2005). Philadelphia: Lippincott Williams & Wilkins; 491-499. Honors & Awards Best Pediatric Specialists/Doctors in DallasD Magazine (2010-2013) (2016-2018) Special Award for MentoringPediatric Neurology Residents (2010) Member, Executive CouncilAmerican Neurological Association (2008) Texas Super DoctorsTexas Monthly (2008-2018) Chair, Section on Child NeurologyAmerican Academy of Neurology (2007-2009) Neurology Alumni AwardUniversity of Rochester Department of Neurology (2000) Professional Associations/Affiliations Academy of Pediatrics American Academy of Neurology American Association for the Advancement of Science International Child Neurology Association Muscular Dystrophy Association of America New York Academy of Science SMA TExpert Panel for Newborn Screening (2017) Southern Society for Pediatric Research The Society for Pediatric Research
